• Initial analysis of the alpha globin gene complex (which maps to chromosome band 16p13.3), demonstrated that the alpha thalassemia results from failure of the patient to inherit an alpha globin allele from one of the parents. (ox.ac.uk)
  • The following chromosome instability syndromes are known: Ataxia telangiectasia Ataxia telangiectasia-like disorder Bloom syndrome Fanconi anaemia Nijmegen breakage syndrome Chromosome instability syndromes include several inherited neurodegenerative diseases that are due to mutations in genes that encode enzymes necessary for DNA repair. (wikipedia.org)
  • Chromosomes are tiny "packages" in your cells that contain your genes. (medlineplus.gov)
  • In a healthy person, almost every cell in the body carries 23 pairs of chromosomes, which hold nearly all of the genes needed for human life. (oneofus.eu)
  • The imprinted region on chromosome 14q32 and expression of imprinted genes on the maternal allele (upper) and paternal allele (lower) for six genes. (bmj.com)
  • Genes are found on chromosomes. (cdc.gov)
  • The chromosomes and genes have a special code called DNA. (cdc.gov)
  • We have narrowed the interval containing the gene causing BBS on chromosome 16 to a 1.5 Mb interval and are analyzing trapped exons as possible candidate genes for BBS. (bgu.ac.il)
  • Because researchers use different approaches to genome annotation , their predictions of the number of genes on each chromosome varies (for technical details, see gene prediction ). (wikipedia.org)
  • The following is a partial list of genes on human chromosome 9. (wikipedia.org)
  • Instead, it's partially determined by some of the genes on those chromosomes. (thetech.org)
  • Researchers are working to identify all of the genes whose loss contributes to the features of 2q37 deletion syndrome. (medlineplus.gov)
  • Chromosome 8p11.2 includes several key genes in development such as the FGFR1, ANK1, KAT6A, and SLC20A2 genes . (bvsalud.org)
  • Here, we describe a patient with AML that progressed from a myelodysplastic syndrome (MDS) with pathogenic mutations of the RUNX1 , SRSF2 , ASXL1 , and TET2 genes in association with development of 1q JTs, which supports that the formation of 1q JTs may involve multiple stages and that 1q JTs may represent a very high-risk cytogenetic abnormality with transformation to AML. (biomedcentral.com)
  • This gene plays a role in craniofacial and cognitive development and mutations have been associated with Williams-Beuren syndrome, a multisystem developmental disorder caused by deletion of multiple genes at 7q11.23. (nih.gov)
  • In order to ensure the proper expression level of genes on the X chromosome, one of the chromosomes is randomly inactivated in every cell in a female mammal. (drugdiscoverynews.com)
  • XIST attaches itself at different points all along the X chromosome, silencing the genes that are located on the X chromosome," said senior author Dr. Samie Jaffrey, a professor of pharmacology at Weill Cornell Medicine. (drugdiscoverynews.com)
  • Understanding how X chromosome inactivation occurs may enable researchers to develop therapies for a variety of diseases caused by mutations of genes on the X chromosome. (drugdiscoverynews.com)
  • The Naegeli-Franceschetti-Jadassohn syndrome critical interval spans approximately 5.4 Mb and contains a minimum of 45 distinct genes. (tau.ac.il)
  • Testing for chromosome and gene abnormalities Chromosomes are structures within cells that contain a person's genes. (msdmanuals.com)
  • These conditions are described as genetic diseases because a defect in one or more genes or chromosomes leads to a pathological condition. (who.int)
  • Each of family members with the myeloid neoplasm also had inherited 14q32 duplication - or a duplication of a region within the long arm of chromosome 14. (chromodisorder.org)
  • Molecular analysis using polymorphic markers on chromosome 21 verified a very small monosomic segment of the proximal long arm of chromosome 21, and additionally trisomy of the remaining distal segment. (johnshopkins.edu)
  • A gene responsible for MKS in Finland has been mapped to chromosome 17q21-q24. (nih.gov)
  • This is really the first sniff we've had of anything to do with gene therapy for Down's syndrome. (oneofus.eu)
  • Lawrence's team used "genome editing", a procedure that allows DNA to be cut and pasted, to drop a gene called XIST into the extra chromosome in cells taken from people with Down's syndrome. (oneofus.eu)
  • Once in place, the gene caused a buildup of a version of a molecule called RNA, which coated the extra chromosome and ultimately shut it down. (oneofus.eu)
  • The XIST gene sits on the X chromosome, but is only active in women. (oneofus.eu)
  • Lawrence's work shows that the gene can shut down other chromosomes too, a finding that paves the way for treating a range of other "trisomy" disorders, such as Edward syndrome and Patau syndrome , caused by extra copies of chromosomes 18 and 13 respectively. (oneofus.eu)
  • The FMR1 gene is on the X chromosome. (cdc.gov)
  • A female has two copies of the FMR1 gene, one on each of her two X chromosomes. (cdc.gov)
  • A male has only one copy of the FMR1 gene on his only X chromosome, so the group a male is in is based on the number of CGG repeats in that one copy. (cdc.gov)
  • Identification of the gene causing BBS on chromosome 16 could aid in the identification of the other BBS loci and could help in the understanding of RP and polygenic disorders such as obesity and hypertension. (bgu.ac.il)
  • A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. (nih.gov)
  • These are some of the gene count estimates of human chromosome 9. (wikipedia.org)
  • The ABO gene , which determines ABO blood type , is located on the long arm of this chromosome. (wikipedia.org)
  • Apert syndrome is a genetic disease (or genetic defect) caused by a mutated gene. (brighthub.com)
  • More specifically, it is caused by mutations in the fibroblast growth factor receptor 2 gene ( FGFR2 ), located on chromosome 10. (brighthub.com)
  • The figure bellow (HIH, 2008, public domain) shows the exact location of the gene mutations that causes Apert syndrome. (brighthub.com)
  • In regard to Apert syndrome, almost all cases are caused by any of two mutations in the FGFR2 gene. (brighthub.com)
  • Researchers have determined that loss of a particular gene on chromosome 2, called HDAC4 , is likely to account for many of the syndrome's characteristic signs (such as intellectual disability and skeletal abnormalities). (medlineplus.gov)
  • While the deleted segment in 2q37 deletion syndrome varies in size, it always contains the HDAC4 gene. (medlineplus.gov)
  • Additionally, a few people with mutations in only the HDAC4 gene have many of the features of 2q37 deletion syndrome. (medlineplus.gov)
  • Deletion of this fragment causes a contiguous gene syndrome . (bvsalud.org)
  • AGG interruptions within the maternal FMR1 gene reduce the risk of offspring with fragile X syndrome. (medscape.com)
  • We hope to block methylation of XIST in order to restore gene expression in Rett syndrome and similar genetic diseases in females carried on the X chromosome. (drugdiscoverynews.com)
  • We studied a large Swiss family with Naegeli-Franceschetti-Jadassohn syndrome originally described by Naegeli in 1927 and assessed linkage to chromosome 17q, which was proposed to harbor the Naegeli-Franceschetti-Jadassohn syndrome gene. (tau.ac.il)
  • Our results considerably narrow the Naegeli-Franceschetti-Jadassohn syndrome gene region from 27 cM to 6 cM flanked by D17S933 and D17S934 with a maximum multipoint LOD score of 2.7 at marker locus D17S800. (tau.ac.il)
  • In summary, our results substantially refine the Naegeli-Franceschetti-Jadassohn syndrome region and will aid in identifying a gene that is critical for ontogenesis of multiple ectodermal tissues. (tau.ac.il)
  • Bloom syndrome (congenital telangiectatic erythema) is caused by a mutation in both alleles of the gene designated BLM, traced to band 15q26.1. (medscape.com)
  • Over 60 mutations of the BLM gene have been found in Bloom syndrome. (medscape.com)
  • Today, understanding the true risk of adverse events in long-QT syndrome (LQTS) populations may be extremely complex and potentially dependent on many factors such as the affected gene, mutation location, degree of QTc prolongation, age, sex, and other yet unknown factors. (medscape.com)
  • Writing in the journal Nature , the team describes how cells corrected for an extra chromosome 21 grew better, and developed more swiftly into early-stage brain cells. (oneofus.eu)
  • The work is already helping scientists to tease apart how an extra chromosome 21 causes a raft of problems that strike people with Down's syndrome at various ages. (oneofus.eu)
  • The US team has already begun work that aims to prevent Down's syndrome in mice, by silencing the extra chromosome 21 in early-stage embryos. (oneofus.eu)
  • Down syndrome is caused by an extra chromosome 21. (msdmanuals.com)
  • which commonly results from a person having an extra chromosome 21. (msdmanuals.com)
  • Chromosome instability syndromes are a group of inherited conditions associated with chromosomal instability and breakage. (wikipedia.org)
  • Inherited mutations in MCM8 and MCM9 can cause a chromosomal instability syndrome characterized by ovarian failure. (wikipedia.org)
  • 15q13.3 microdeletion is a chromosomal change in which a small piece of chromosome 15 is deleted in each cell. (nih.gov)
  • How this extremely rare chromosomal aberration contributes to the pathogenesis of myelodysplastic syndrome should be clarified by accumulating clinical data of such cases. (biomedcentral.com)
  • Chromosomal abnormalities are found in a considerable number of patients with myelodysplastic syndrome (MDS). (biomedcentral.com)
  • Jumping translocations (JTs) are chromosomal rearrangements comprising one donor chromosome and multiple recipient chromosomes [ 1 ]. (biomedcentral.com)
  • JTs are characterized by translocations of one donor chromosome to various recipient chromosomes, resulting in several gains of this chromosomal segment and possible loss of segments of the recipient chromosomes [ 1 , 2 ]. (biomedcentral.com)
  • Fusion of the break-off donor chromosome segment to telomeric or interstitial regions of recipient chromosomes can form different chromosomal patterns of jumping translocations. (biomedcentral.com)
  • The findings, reported in Nature , could offer researchers a new scientific avenue to pursue treatments for X-linked chromosomal diseases in females, such as Rett syndrome. (drugdiscoverynews.com)
  • They thought that inefficient removal of peroxide might be responsible for the high rates of sister chromatid exchange and chromosomal damage in Bloom syndrome cells. (medscape.com)
  • Moreover, while the modality is superior to ultrasonography in detecting CNS abnormalities that are commonly found in Meckel-Gruber syndrome, it is limited in that it cannot be used to assess fetal movement. (medscape.com)
  • Hepatic lesions can be considered one of the hidden abnormalities of Meckel-Gruber syndrome because they are visible only during postmortem examination. (medscape.com)
  • Although JTs have been reported in neoplasms and constitutional chromosome abnormalities, they are rare chromosome rearrangements in neoplastic diseases. (biomedcentral.com)
  • Spider Lamb Syndrome (SLS) is a semi-lethal congenital disorder, causing severe skeletal abnormalities in sheep. (illinois.edu)
  • Sex chromosome abnormalities may be caused by full or partial deletions or duplications of sex chromosomes. (msdmanuals.com)
  • Abnormalities can also occur when a person is missing part of a sex chromosome (called a deletion). (msdmanuals.com)
  • Sex chromosome abnormalities are common and cause syndromes that are associated with a range of physical and developmental problems. (msdmanuals.com)
  • White matter microstructural abnormalities in girls with chromosome 22q11. (bvsalud.org)
  • In the present study, we report on the mapping of a second MKS locus (MKS2) to chromosome 11q13, by homozygosity mapping in seven families that do not show linkage to chromosome 17q21-q24 (maximum LOD score 4.41 at recombination fraction .01). (nih.gov)
  • We obtained evidence for X-linkage and regional assignment to Xq24-q27 of this syndrome (maximal lod score = 5.26 with a recombination fraction of 0% at the DXS1192 locus). (nih.gov)
  • Chromosome 14 harbours an imprinted locus at 14q32. (bmj.com)
  • There is one known imprinted locus on human chromosome 14, at 14q32. (bmj.com)
  • The purpose of this study is to fine-map and further define the chromosome 16q13 BBS locus (BBS2). (bgu.ac.il)
  • Genetic linkage between SLS and several microsatellite markers, OarJMP8, McM214, OarJMP12, and BL1038, was detected, thereby mapping the SLS locus to the telomeric end of ovine Chromosome (Chr) 6. (illinois.edu)
  • No demonstrable linkage to chromosome 1 was found in either family, suggesting that a second locus is responsible for the severe form of neonatal Schwartz-Jampel syndrome. (uaeu.ac.ae)
  • It's not clear to independent stem cell or Down's experts how stem cells - which can form many types of tissue - might treat Down's, a genetic disorder caused by having an extra chromosome . (newscientist.com)
  • Maternal uniparental disomy of chromosome 14, paternal deletions and loss of methylation at the intergenic differentially methylated region (IG-DMR) result in a human phenotype of low birth weight, hypotonia, early puberty and markedly short adult stature. (bmj.com)
  • Temple syndrome (TS) is an imprinting disorder that was first described by Temple et al in 1991 in a report of a male aged 18 years with maternal uniparental disomy of chromosome 14. (bmj.com)
  • Cutis aplasia is one of the major features presented by 19q13.11 deletion syndrome patients. (symptoma.com)
  • Distal 18q deletion syndrome occurs when a piece of the long (q) arm of chromosome 18 is missing. (nih.gov)
  • 2q37 deletion syndrome is a condition that can affect many parts of the body. (medlineplus.gov)
  • Most babies with 2q37 deletion syndrome are born with weak muscle tone (hypotonia), which usually improves with age. (medlineplus.gov)
  • Unusual physical features are also common in people with 2q37 deletion syndrome. (medlineplus.gov)
  • Other features of 2q37 deletion syndrome can include seizures and an inflammatory skin disorder called eczema. (medlineplus.gov)
  • A few people with 2q37 deletion syndrome develop a rare form of kidney cancer called Wilms tumor . (medlineplus.gov)
  • 2q37 deletion syndrome appears to be a rare condition, although its exact prevalence is unknown. (medlineplus.gov)
  • Most cases of 2q37 deletion syndrome are not inherited. (medlineplus.gov)
  • Early-Onset Diabetes Mellitus in Chromosome 8p11.2 Deletion Syndrome Combined With Becker Muscular Dystrophy - A Case Report. (bvsalud.org)
  • We report a rare case of 8p11.2 deletion syndrome with the unique phenotypes , presenting with early-onset diabetes. (bvsalud.org)
  • De Smedt B, Swillen A, Verschaffel L, Ghesquiere P. Mathematical learning disabilities in children with 22q11.2 deletion syndrome: a review. (medscape.com)
  • Phelan-McDermid syndrome (also known as 22q13.3 deletion syndrome) is one of the most common microdeletion syndromes with more than 600 cases worldwide. (rug.nl)
  • The 22q13.3 Deletion Syndrome (Phelan-McDermid Syndrome). (rug.nl)
  • 2 deletion syndrome, Fragile X or Turner syndrome as evidenced by diffusion tensor imaging. (bvsalud.org)
  • abstract = "We report on a mentally retarded child with multiple minor anomalies and an unusually rearranged chromosome 21. (johnshopkins.edu)
  • abstract = "Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis are autosomal dominant ectodermal dysplasias characterized by the absence of dermatoglyphics, reticulate hyperpigmentation of the skin, hypohidrosis, and heat intolerance. (tau.ac.il)
  • Chromosome instability syndromes due to impaired DNA repair and with features of neurodegeneration and epigenetic alteration were summarized by Bernstein and Bernstein. (wikipedia.org)
  • In Phelan-McDermid syndrome there is a small piece of chromosome 22 missing (a deletion). (rug.nl)
  • We therefore performed linkage analysis with microsatellite markers of the X chromosome in three families. (nih.gov)
  • Significant linkage was found on chromosome 19p for a series of microsatellite markers, with a maximum two-point LOD score of 3.59 at θ = 0.0 for marker D19S878. (ucc.ie)
  • Linkage of Schwartz-Jampel syndrome to human chromosome 1p34-p36.1 has been shown in families where probands presented during infancy or early childhood. (uaeu.ac.ae)
  • Previous literature has categorized 3 groups of the 13q deletion syndromes: 1) proximal deletions not extending into q32, 2) more distal deletions including at least of part of q32, 3) most distal deletions involving q33-34. (chromodisorder.org)
  • This der(21) chromosome has a deletion of 21p and of proximal 21q, whereas the main portion of 21q is duplicated leading to a mirror-symmetric appearance with the mirror axis at the breakpoint. (johnshopkins.edu)
  • pUPD was detected in 11p15 and next in the entire chromosome 11 with microsatellite markers. (lu.se)
  • The centromere is only characterized by a secondary constriction (with a centromeric index of a G chromosome) at an unexpected distal position, but fluorescence in situ hybridization (FISH) with either chromosome specific or with all human centromeres alpha satellite DNA shows no cross hybridization. (johnshopkins.edu)
  • Down's syndrome arises when cells have an extra copy of chromosome 21. (oneofus.eu)
  • Rarely, an affected individual inherits a copy of chromosome 2 with a deleted segment from an affected parent. (medlineplus.gov)
  • About 10% of patients with myeloid neoplasms are thought to have a genetic predisposition to myelodysplastic syndrome (MDS) or acute myeloid leukemia (AML). (chromodisorder.org)
  • Some people have signs or symptoms that suggest they might have a myelodysplastic syndrome (MDS). (cancer.org)
  • Deletions of chromosome 7 are often detected in myelodysplastic syndrome. (biomedcentral.com)
  • According to World Health Organization classification, the diagnosis was myelodysplastic syndrome-u. (biomedcentral.com)
  • To the best of our knowledge, this karyotype from a clinical sample of de novo malignancies has never been documented although the identical karyotype from secondary myelodysplastic syndrome was reported. (biomedcentral.com)
  • Despite the extremely low frequency, inversion of 7q22 appears to play a crucial role for myelodysplastic syndrome in this patient. (biomedcentral.com)
  • Here, we describe an acute myeloid leukemia (AML) that progressed from myelodysplastic syndrome (MDS) in association with acquisition of 1q JTs. (biomedcentral.com)
  • A chromosome therapy for humans would be fraught with practical and ethical difficulties. (oneofus.eu)
  • fChromosome 9 is one of the 23 pairs of chromosomes in humans . (wikipedia.org)
  • Humans normally have two copies of this chromosome, as they normally do with all chromosomes. (wikipedia.org)
  • We propose the use of the name 'Temple syndrome' for this condition and suggest that improved diagnosis and long-term monitoring, especially of growth and cardiovascular risk factors, is required. (bmj.com)
  • Also called karyotype analysis, this test is used to confirm a diagnosis of Klinefelter syndrome. (mayoclinic.org)
  • Lachiewicz AM, Dawson DV, Spiridigliozzi GA. Physical characteristics of young boys with fragile X syndrome: reasons for difficulties in making a diagnosis in young males. (medscape.com)
  • Bailey DB Jr, Raspa M, Bishop E, Holiday D. No change in the age of diagnosis for fragile x syndrome: findings from a national parent survey. (medscape.com)
  • Originally established in the 1980s, the month of October is set aside to raise understanding of Down syndrome and the amazing abilities people with the diagnosis have. (gigisplayhouse.org)
  • We created this magazine as another avenue to spread acceptance and awareness while celebrating the Down syndrome diagnosis! (gigisplayhouse.org)
  • Heterozygous deletion of chromosome 15q13.3 is associated with a highly variable phenotype, even within families segregating the same deletion. (nih.gov)
  • Accordingly, an offspring of a parent with Apert syndrome has a 50% chance of getting the mutations and thus the disease. (brighthub.com)
  • The fragile X syndrome: no evidence for any recent mutations. (medscape.com)
  • Donate now to increase awareness and research into chromosome disorders. (chromodisorder.org)
  • Physicians, genetic counselors, therapists and other healthcare professionals, register now to help us learn more about rare chromosome disorders: the associated symptoms, new research and evolving treatments. (chromodisorder.org)
  • Help us in our efforts to raise awareness of rare chromosome disorders by visiting our online store. (chromodisorder.org)
  • Some genetic diseases, such as haemophilia, are carried on the X-chromosome (these X-linked disorders occur mainly in men). (who.int)
  • What are the symptoms of Turner syndrome? (medlineplus.gov)
  • Turner syndrome can cause many different symptoms. (medlineplus.gov)
  • Some of the symptoms of Turner syndrome affect a person's appearance. (medlineplus.gov)
  • After considering the symptoms, a blood test is done to analyze the child's chromosomes. (medicinenet.com)
  • There is no cure for the Apert syndrome genetic defects, but there is much that can be done to manage the symptoms of the disease, including surgery to separate fused bones (most patients will require several operations), and speech therapy to help overcome difficulties with talking that are encountered by some people. (brighthub.com)
  • This causes a few cells in the body to have two complete X chromosomes, and the other cells to have just one copy. (medicinenet.com)
  • In some cases, a few cells have one copy of the X chromosome while other cells have a copy of the X chromosome as well as some Y chromosome material. (medicinenet.com)
  • Scientists have corrected the genetic fault that causes Down's syndrome - albeit in isolated cells - raising the prospect of a radical therapy for the disorder. (oneofus.eu)
  • In an elegant series of experiments, US researchers took cells from people with DS and silenced the extra chromosome that causes the condition. (oneofus.eu)
  • Another approach would cut the risk of leukaemia by silencing the extra chromosome in bone marrow cells. (oneofus.eu)
  • To prevent Down's syndrome, the genome editing would have to be performed on an embryo or foetus in the womb, and correct most, if not all, of the future child's cells. (oneofus.eu)
  • In Meckel-Gruber syndrome, the plates do not atrophy and prevent reorganization by the remaining biliary cells to form tubular ducts. (medscape.com)
  • Chromosome 9 spans about 150 million base pairs of nucleic acids (the building blocks of DNA ) and represents between 4.0 and 4.5% of the total DNA in cells . (wikipedia.org)
  • As far as we know, it's the first time that stem cells have been used to treat Down's syndrome," says Jyoti Titus, manager at Nutech Mediworld clinic in New Delhi, India. (newscientist.com)
  • A patent held by the clinic's medical director, Geeta Shroff, from 2007 suggests that the cells offered by Nutech Mediworld could be helpful for over 70 types of conditions, from Down's syndrome to Alzheimer's disease, and even vegetative states. (newscientist.com)
  • But in a study published last year Shroff, reported that a baby with Down's syndrome developed better understanding, improved limb muscle tone, and the ability to recognise his relatives after receiving stem cells ( Journal of Medical C ases, doi.org/bx3v ). (newscientist.com)
  • The syndrome might be identified in pregnancy during a procedure to examine fetal cells drawn from the amniotic fluid (amniocentesis) or placenta for another reason - such as being older than age 35 or having a family history of genetic conditions. (mayoclinic.org)
  • All cells in female mammals contain two X chromosomes, but only one is needed for proper cell function and development, Weill Cornell notes. (drugdiscoverynews.com)
  • They found that cells that could not methylate XIST were not able to carry out X chromosome inactivation. (drugdiscoverynews.com)
  • When they removed DC1 from the cells, XIST was unable to turn off the X chromosome. (drugdiscoverynews.com)
  • Absence of the X chromosome that occurs due to a defect in the father's sperm or in the mother's egg. (medicinenet.com)
  • The deletion occurs on the long (q) arm of the chromosome at a position designated q13.3. (nih.gov)
  • This may be due to a pure deletion (which does not involve another chromosome), a translocation (which occurs with the loss of more material from another chromosome), or due to a ring form (the two ends of chromosome 22 have joined together). (rug.nl)
  • Reviewing 21 cases from published reports, the most common features of this syndrome are microcephaly and associated mental retardation, poor uterine growth, deformed auricles, hypertelorism, epicanthus, broad nasal bridge, and genital defects in males. (bmj.com)
  • Bardet-Biedl syndrome (BBS) is a heterogeneous autosomal recessive disorder characterized by RP, obesity, polydactyly, mental retardation, and hypogonadism. (bgu.ac.il)
  • Clinical features and molecular analysis of the alpha thalassemia/mental retardation syndromes. (ox.ac.uk)
  • One example is Rett syndrome, a neurodevelopmental disorder in females in which an X-linked mutation causes neurons to make insufficient amounts of a protein needed for normal neurological development, resulting in a form of autism. (drugdiscoverynews.com)
  • Owing to the genomic instability present in this disease, patients with Bloom syndrome show a much higher incidence of malignant neoplasms, which is the major cause of death in such patients. (medscape.com)
  • Females have two X chromosomes (XX), and males have one X and one Y chromosome (XY). (cdc.gov)
  • Oral-facial-digital syndrome type I (OFD1) is usually male lethal during gestation and predominantly affects females. (nih.gov)
  • Del Hoyo Soriano L, Thurman AJ, Harvey DJ, Ted Brown W, Abbeduto L. Genetic and maternal predictors of cognitive and behavioral trajectories in females with fragile X syndrome. (medscape.com)
  • Pentasomy X is a rare disorder of the sex chromosomes, which only affects females and is characterized by the presence of five chromosomes "x" (49,xxxxx) instead of two (46,xx). (bvsalud.org)
  • in at least four cases the deletion results from unbalanced chromosome translocation, and hence aneuploidy of a second chromosome is also present. (ox.ac.uk)
  • STAR, Inc., Lighting the Way is a nonprofit organization established in 1952 to serve individuals of all ages who are impacted by intellectual and developmental disabilities (I/DD) in Fairfield County (including Down syndrome and Autism), as well as providing support services to their families. (stamfordplus.com)
  • Sex is determined by the combination of X and Y chromosomes a person inherits: men are XY, and women are XX. (oneofus.eu)
  • Spectrum of Hematological Malignancies, Clonal Evolution and Outcomes in 144 Mayo Clinic Patients with Germline Predisposition Syndromes. (cdc.gov)
  • Meckel syndrome (MKS) is a rare autosomal recessive lethal condition of unknown origin, characterized by (i) an occipital meningo-encephalocele with (ii) enlarged kidneys, with multicystic dysplasia and fibrotic changes in the portal area of the liver and with ductal proliferation, and (iii) postaxial polydactyly. (nih.gov)
  • Schwartz-Jampel syndrome (SJS) is a rare autosomal recessive disorder characterised by the presence of myotonia with a mask-like face, skeletal dysplasia, and growth retardation. (uaeu.ac.ae)
  • Bloom syndrome (congenital telangiectatic erythema) is a rare autosomal recessive disorder. (medscape.com)
  • The deletion itself may not lead to a clinically recognizable syndrome and a subset of persons with the recurrent deletion have no obvious clinical findings, implying that penetrance for the deletion is incomplete. (nih.gov)
  • Clinical and genomic evaluation of 201 patients with Phelan-McDermid syndrome. (rug.nl)
  • In many cases, women with these diseases have one normal and one mutated X chromosome, but it is the normal chromosome that has been suppressed. (drugdiscoverynews.com)
  • Apert syndrome is an autosomal dominant type of disease. (brighthub.com)
  • Although Alzheimer disease (AD) is more frequent in individuals with Down syndrome (DS), the main contributing factor is unknown. (medscape.com)
  • The long-QT syndrome (LQTS) is an inherited heart rhythm disorder characterized by a prolonged QT interval on the electrocardiogram (ECG), due to delayed cardiac repolarization, in the absence of documented structural heart disease. (medscape.com)